Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S167*
Back to variants list

CRX

NM_000554.6:p.S167*

Associated Papers

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."